ArticleJournal of medical genetics1993
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- Diastrophic dysplasia: prenatal diagnosis and review of the literature.Sao Paulo medical journal = Revista paulista de medicina · 2013Review
- Osteochondral diseases and fibrodysplasia ossificans progressiva.Advances in experimental medicine and biology · 2010Review
- Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.Journal of medical genetics · 1996Article
- The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.American journal of human genetics · 1994Article
- Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up.Journal of craniovertebral junction & spineArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ultrasonography is a non-invasive method for prenatal detection of diastrophic dysplasia (DTD) in the second trimester of pregnancy. As there is a need for genetic counselling as early as possible we wished to develop a method based on molecular analysis. Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. The DNA analyses predicted that three of the fetuses were unaffected and two affected. These results were concordant with those obtained by ultrasonography, and the phenotype of the fetus was correctly predicted in all cases. DNA analysis provides a reliable means of prenatal diagnosis in the first trimester of pregnancy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.